Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121909730
rs121909730
GLUD1
4 0.882 0.040 10 87053380 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2010 2010
dbSNP: rs225017
rs225017
DIO2
2 0.925 0.080 14 80200883 3 prime UTR variant A/T snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs4629571
rs4629571
HMGCR ; CERT1
2 0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs587777260
rs587777260
TBC1D4
2 0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs146488435
rs146488435
KCNH6
5 0.851 0.080 17 63533914 missense variant C/G;T snv 8.0E-06; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs746906443
rs746906443
MC4R
2 0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1016862
rs1016862
MC4R
1 1.000 0.040 18 60371844 missense variant A/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1316381133
rs1316381133
MC4R
1 1.000 0.040 18 60371445 missense variant T/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121913564
rs121913564
MC4R
3 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs12970134
rs12970134 		13 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs17782313
rs17782313 		34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs2066808
rs2066808
STAT2
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs11171806
rs11171806
IL23A
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs193922479
rs193922479
HNF4A
2 0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587777732
rs587777732
HNF4A ; MIR3646
9 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs4925663
rs4925663
OR2B11
2 0.925 0.040 1 247451315 missense variant C/T snv 0.41 0.35 0.010 1.000 1 2019 2019
dbSNP: rs12143966
rs12143966
NLRP3
2 1.000 0.040 1 247438055 intron variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2010 2010